Fields of Research

Ophthalmology
Genomics
Medical genetics (excl. cancer genetics)
Gene mapping
Neurogenetics
Vision science
Central nervous system
Epidemiology
Cellular nervous system
Neurology and neuromuscular diseases
Medical and health law
Statistical and quantitative genetics
Cancer cell biology
Ophthalmology and optometry
Genetics
Bioethics
Preventative health care
Clinical pharmacy and pharmacy practice
Cardiology (incl. cardiovascular diseases)
Mental health services
Autoimmunity
Endocrinology
Immunogenetics (incl. genetic immunology)
Medical biochemistry - amino acids and metabolites
People with disability
Primary health care
Sensory systems
Information extraction and fusion
Health promotion
Regenerative medicine (incl. stem cells)
Health informatics and information systems
Medical ethics
Health counselling

Research Objectives

Clinical health
Expanding knowledge in the biomedical and clinical sciences
Diagnosis of human diseases and conditions
Evaluation of health outcomes
Treatment of human diseases and conditions
Expanding knowledge in the health sciences
Other health
Behaviour and health
Determinants of health
Law reform
Bioethics
Prevention of human diseases and conditions
Preventive medicine
Mental health services
Social structure and health
Health status (incl. wellbeing)
Adolescent health
Neonatal and child health
Health inequalities

Career Best Publications

Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma; Nature Genetics
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus; Nature Genetics
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1; Nature Genetics
High-throughput genetic screening of 51 pediatric cataract genes identifies causative mutations in inherited pediatric cataract in South Eastern Australia; G3: Genes, Genomes, Genetics
Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation; American Journal of Human Genetics

Research Publications

ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure; Human Molecular Genetics
CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma; Molecular Vision
Epha2 genotype influences ultraviolet radiation induced cataract in mice; Experimental Eye Research
Myocilin predictive genetic testing for primary open-angle glaucoma leads to early identification of at-risk individuals; Ophthalmology
PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia; Molecular Vision
A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract; European Journal of Human Genetics
A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome; Nature Genetics
A common variant near TGFBR3 is associated with primary open angle glaucoma; Human Molecular Genetics
A cross-ethnicity investigation of genes previously implicated in primary angle closure glaucoma; Molecular Vision
A genome-wide association study suggests new evidence for an association of the NADPH Oxidase 4 (NOX4) gene with severe diabetic retinopathy in type 2 diabetes; Acta Ophthalmologica
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants; Nature Genetics
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus; Communications Biology
A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma; BMC Medical Genetics
A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an Indigenous Australian family; American Journal of Medical Genetics. Part A
A novel locus for X-linked congenital cataract on Xq24; Molecular Vision
A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance; Journal of Medical Genetics
A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32; BMC Medical Genetics
A single-nucleotide polymorphism in the MicroRNA-146a gene is associated with diabetic nephropathy and sight-threatening diabetic retinopathy in Caucasian patients; Acta Diabetologica
A systematic meta-analysis of genetic association studies for diabetic retinopathy; Diabetes
A Turkish family with Nance-Horan syndrome due to a novel mutation; Gene: An International Journal Focusing on Gene Cloning and Gene Structure and Function
Accurate imputation-based screening of Gln368Ter myocilin variant in primary open-angle glaucoma; Investigative Ophthalmology and Visual Science
Aldose reductase gene polymorphisms and diabetic retinopathy susceptibility; Diabetes Care
Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma; Scientific Reports
Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people; Human Molecular Genetics
Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity; Journal of Clinical Investigation
Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci; Human Genetics
Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration; Scientific Reports
Association between erythropoietin gene polymorphisms and diabetic retinopathy; Archives of Ophthalmology
Association of Arachidonate 12-Lipoxygenase Genotype Variation and Glycemic Control With Albuminuria in Type 2 Diabetes; American Journal of Kidney Diseases
Association of eNOS polymorphisms with primary angle-closure glaucoma; Investigative Ophthalmology and Visual Science (Iovs)
Association of genetic variants in the TMCO1 gene with clinical parameters related to glaucoma and characterization of the protein in the eye; Investigative Ophthalmology & Visual Science
Association of genetic variants with primary angle closure glaucoma in two different populations; PLoS One
Association of genetic variation with keratoconus; JAMA Ophthalmology
Association of open-angle glaucoma loci with incident glaucoma in the Blue Mountains Eye Study; American Journal of Ophthalmology
Association of Polymorphisms in MACRO Domain Containing 2 With Thyroid-Associated Orbitopathy; Investigative Ophthalmology and Visual Science (IOVS)
Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus; Investigative Ophthalmology and Visual Science
Association of TCF4 and CLU polymorphisms with Fuchs endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process; European Journal of Human Genetics
Australian and New Zealand Registry of Advanced Glaucoma: Methodology and recruitment; Clinical and Experimental Ophthalmology
Author Response: Stronger Association of CDKN2B-AS1 Variants in Female Normal-Tension Glaucoma Patients in a Japanese Population; Investigative Ophthalmology and Visual Science
Biallelic CPAMD8 variants are a frequent cause of childhood and juvenile open-angle glaucoma; Ophthalmology
Biological effect of LOXL1 coding variants associated with pseudoexfoliation syndrome; Experimental Eye Research
Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness; Molecular Vision
Chromosome 9p21 primary open-angle glaucoma susceptibility locus: a review
Common genetic variants near the brittle cornea syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness; PL o S Genetics (Print)
Common sequence variation in the VEGFA gene predicts risk of diabetic retinopathy; Investigative Ophthalmology and Visual Science (Iovs)
Common sequence variation in the VEGFC gene is associated with diabetic retinopathy and diabetic macular edema; Ophthalmology
Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract; Communications Biology
Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma; Nature Genetics
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma; Nature Genetics
Comparing vision and macular thickness in neovascular age-related macular degeneration, diabetic macular oedema and retinal vein occlusion patients treated with intravitreal antivascular endothelial growth factor injections in clinical practice; BMJ Open Ophthalmology
Compound heterozygote myocilin mutations in a pedigree with high prevalence of primary open-angle glaucoma; Molecular Vision
Contribution of mutations in known mendelian glaucoma genes to advanced early-onset primary open-angle glaucoma; Investigative Ophthalmology and Visual Science
Copy number variations of TBK1 in Australian patients with primary open-angle glaucoma; American Journal of Ophthalmology
Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases; Nature Communications
Diabetic macular oedema: clinical risk factors and emerging genetic influences; Clinical and Experimental Optometry
Diabetic retinopathy is associated with elevated serum asymmetric and symmetric dimethylarginines; Diabetes Care
Diabetic retinopathy is not associated with carbonic anhydrase gene polymorphisms; Molecular Vision
Differential gene expression analysis of corneal endothelium indicates involvement of phagocytic activity in Fuchs’ endothelial corneal dystrophy; Experimental Eye Research
Differential gene expression profiling of orbital adipose tissue in thyroid orbitopathy; Investigative Ophthalmology and Visual Science
DNA methylation at the 9p21 glaucoma susceptibility locus is associated with normal-tension glaucoma; Ophthalmic Genetics
Editorial profiles; Clinical and Experimental Ophthalmology
Elevation of serum asymmetrical and symmetrical dimethylarginine in patients with advanced glaucoma; Investigative Ophthalmology & Visual Science
EPHA2 mutations contribute to congenital cataract through diverse mechanisms; Molecular Vision
Ethical considerations for the return of incidental findings in ophthalmic genomic research; Translational Vision Science and Technology
Ethnic and mouse strain differences in central corneal thickness and association with pigmentation phenotype; PLoS One
Evaluating gap junction variants for a role in pediatric cataract: an overview of the genetic landscape and clinical classification of variants in the GJA3 and GJA8 genes; Expert Review of Ophthalmology
Ferritin light chain gene mutation in a large Australian family with hereditary hyperferritinemia-cataract syndrome; Ophthalmic Genetics
Functional and structural implications of the complement factor H Y402H polymorphism associated with Age-Related macular degeneration; Investigative Ophthalmology and Visual Science (Iovs)
Gene set enrichment analyses identify pathways involved in genetic risk for diabetic retinopathy; American Journal of Ophthalmology
Generation and characterisation of four multiple sclerosis iPSC lines from a single family; Stem Cell Research
Generation of MNZTASi001-A, a human pluripotent stem cell line from a person with primary progressive multiple sclerosis; Stem Cell Research
Genetic analysis of the clusterin gene in pseudoexfoliation syndrome; Molecular Vision
Genetic analysis of the soluble epoxide hydrolase gene, EPHX2, in subclinical cardiovascular disease in the Diabetes Heart Study; Diabetes and Vascular Disease Research
Genetic and environmental risk factors for keratoconus; Annual Review of Vision Science
Genetic association at the 9p21 glaucoma locus contributes to sex bias in normal-tension glaucoma; Investigative Ophthalmology and Visual Science
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci; Nature Genetics
Genetic investigation into the endophenotypic status of central corneal thickness and optic disc parameters in relation to open-angle glaucoma; American Journal of Ophthalmology
Genetic study of diabetic retinopathy: Recruitment methodology and analysis of baseline characteristics; Clinical and Experimental Ophthalmology
Genetic variation near GRB2 and KCNB2 identified by a genome-wide association study are reproducibly associated with diabetic retinopathy (Abstract); Clinical and Experimental Ophthalmology
Genetically determined plasma lipid levels and risk of diabetic retinopathy: A mendelian randomization study; Diabetes
Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma; Nature Genetics
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus; Nature Genetics
Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma; Nature Genetics
Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility; Nature Genetics
Genome-wide association studies for diabetic macular edema and proliferative diabetic retinopathy; BMC Medical Genetics
Genome-wide association studies in the hunt for genes causing primary open-angle glaucoma: a review; Clinical and Experimental Ophthalmology
Genome-wide association study for sight-threatening diabetic retinopathy reveals association with genetic variation near the GRB2 gene; Diabetologia
Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma; Nature Genetics
Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma; Human Molecular Genetics
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1; Nature Genetics
Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy; Nature Communications
Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma; Nature Genetics
Genome-wide meta-analyses of multi-ethnic cohorts identify multiple new susceptibility loci for refractive error and myopia; Nature Genetics
Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma; Nature Genetics
Genotype, age, genetic background, and sex influence Epha2-related cataract development in mice; Investigative Ophthalmology and Visual Science
Glaucoma risk alleles at CDKN2B-AS1 are associated with lower intraocular pressure, normal-tension glaucoma, and advanced glaucoma; Ophthalmology
Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants; European Journal of Human Genetics
GWAS study using DNA pooling strategy identifies association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration; Scientific Reports
Heritability of Central Corneal Thickness in Nuclear Families ; Investigative Ophthalmology and Visual Science (Iovs)
High-throughput genetic screening of 51 pediatric cataract genes identifies causative mutations in inherited pediatric cataract in South Eastern Australia; G3: Genes, Genomes, Genetics
Higher prevalence of myocilin mutations in advanced glaucoma in comparison with less advanced disease in an australasian disease registry; Ophthalmology
Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma; American Journal of Human Genetics: A Record of Research, Review and Bibliographic Material Relating to Heredity in Man
Human lipoxygenase pathway gene variation and association with markers of subclinical atherosclerosis in the diabetes heart study; Mediators of Inflammation
Identification of a novel MYOC mutation, p.(Trp373*), in a family with open angle glaucoma; Gene
Identification of a novel oligomerization disrupting mutation in CRYΑA associated with congenital cataract in a South Australian family; Human Mutation
Identification of LOXL1 protein and Apolipoprotein E as components of surgically isolated pseudoexfoliation material by direct mass spectrometry; Experimental Eye Research: An International Journal Devoted to Scientific Research on The Eye
Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka; Molecular Genetics & Genomic Medicine
Identifying genetic biomarkers predicting response to anti-vascular endothelial growth factor injections in diabetic macular edema; International Journal of Molecular Sciences
Identifying genetic risk factors for diabetic macular edema and the response to treatment; Journal of Diabetes Research
Innate and adaptive gene single nucleotide polymorphisms associated with susceptibility of severe inflammatory complications in Acanthamoeba keratitis; Investigative Ophthalmology and Visual Science
Insights into keratoconus from a genetic perspective; Clinical and Experimental Optometry
Integrating Genetic structural variations and whole genome sequencing into clinical neurology; Neurology: Genetics
Investigation of albinism genes in congenital esotropia; Molecular Vision
Investigation of crystallin genes in familial cataract, and report of two disease associated mutations; British Journal of Ophthalmology
Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract; Molecular Vision
Key challenges in bringing CRISPR-mediated somatic cell therapy into the clinic; Genome Medicine
Long-term survival rates of patients undergoing vitrectomy for diabetic retinopathy in an Australian population: a population-based audit; Clinical and Experimental Ophthalmology
Macular ganglion cell-inner plexiform layer loss precedes peripapillary retinal nerve fiber layer loss in glaucoma with lower intraocular pressure; Ophthalmology
MALDI-MS-imaging of whole human lens capsule; Journal of Proteome Research
Matrix metalloproteinase-9 genetic variation and primary angle closure glaucoma in a Caucasian population; Molecular Vision
Measurement of systemic mitochondrial function in advanced Primary Open-Angle Glaucoma and Leber Hereditary Optic Neuropathy; PLoS One
Meta-analysis of genome-wide association studies identifies novel loci associated with optic disc morphology; Genetic Epidemiology
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process; Nature Communications
MicroRNA-related genetic variants are associated with diabetic retinopathy in type 1 diabetes mellitus; Investigative Ophthalmology & Visual Science
Mitochondrial haplogroups are not associated with diabetic retinopathy in a large Australian and British Caucasian sample; Scientific Reports
Multiethnic genome-wide association study of diabetic retinopathy using liability threshold modeling of duration of diabetes and glycemic control; Diabetes
Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression; Nature Genetics
Mutation in TMEM98 in a large white kindred with Autosomal Dominant Nanophthalmos linked to 17p12-q12; JAMA Ophthalmology
Mutational analysis of MIR184 in sporadic keratoconus and myopia; Investigative Ophthalmology and Visual Science (Iovs)
Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation; American Journal of Human Genetics
Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia; PLoS One
Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity; Clinical and Experimental Ophthalmology
Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract; Human Mutation
Myocilin gene Gln368Ter variant penetrance and association with glaucoma in population-based and registry-based studies; JAMA Ophthalmology
New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics; Human Molecular Genetics
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error; American Journal of Human Genetics: A Record of Research, Review and Bibliographic Material Relating to Heredity in Man
Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform; Molecular Vision
Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome); BMC Medical Genetics
Novel plasma and brain proteins that are implicated in multiple sclerosis; Brain
Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes; Human Genetics
Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss; JAMA Ophthalmology
Ocular expression and distribution of products of the POAG-Associated chromosome 9p21 Gene Region; PL o S One
Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract; European Journal of Human Genetics
Pathogenic genetic variants identified in Australian families with paediatric cataract; BMJ Open Ophthalmology
Pooled genome wide association detects association upstream of FCRL3 with Graves' disease; BMC Genomics
Predictive genetic testing experience for myocilin primary open-angle glaucoma using the Australian and New Zealand Registry of Advanced Glaucoma; Genetics in Medicine
Predictive genetic testing in minors for Myocilin juvenile onset open angle glaucoma; Clinical Genetics
Prevalence of FOXC1 variants in individuals with a suspected diagnosis of primary congenital glaucoma; JAMA Ophthalmology
Progress and challenges in genome-wide studies to understand the genetics of diabetic retinopathy; Annals of Eye Science
Promoter polymorphism at the tumour necrosis factor/lymphotoxin-alpha locus is associated with type of diabetes but not with susceptibility to sight-threatening diabetic retinopathy; Diabetes and Vascular Disease Research
Rapid and efficient cataract gene evaluation in F0 zebrafish using CRISPR-Cas9 ribonucleoprotein complexes; Methods: A Companion to Methods in Enzymology
Rapid inexpensive genome-wide association using pooled whole blood; Genome Research
Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma; Molecular Genetics & Genomic Medicine
Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent; PLoS One
Rare, potentially pathogenic variants in ZNF469 are not enriched in keratoconus in a large Australian cohort of European descent; Investigative Ophthalmology and Visual Science (Iovs)
Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract; BMC Research Notes
Reduced expression of apolipoprotein E and immunoglobulin heavy constant gamma 1 proteins in Fuchs endothelial corneal dystrophy; Clinical and Experimental Ophthalmology
Relationship between DDAH gene variants and serum ADMA level in individuals with type 1 diabetes; Journal of Diabetes and Its Complications
Relative selenium deficiency in Graves' orbitopathy (Poster Abstract); Clinical and Experimental Ophthalmology
Replication and meta-analysis of candidate loci identified variation at RAB3GAP1 associated with keratoconus; Investigative Ophthalmology and Visual Science (Iovs)
Reply: Does the Association Between TMEM98 and Nanophthalmos Require Further Confirmation?; JAMA Ophthalmology
Review of the prevalence of diabetic retinopathy in Indigenous Australians; Clinical and Experimental Ophthalmology
Role of direct-to-consumer genetic testing for complex disease in diagnostics and research; Clinical and Experimental Ophthalmology
Screening of the COL8A2 gene in an Australian family with early-onset Fuchs’ endothelial corneal dystrophy; Clinical and Experimental Ophthalmology
Screening phenotypically normal Caucasian Australians for the lysyl oxidase-like 1 gene; Clinical and Experimental Ophthalmology
Sequence variation in DDAH1 and DDAH2 genes is strongly and additively associated with serum ADMA concentrations in individuals with type 2 diabetes; PL o S One
Serum selenium status in Graves’ disease with and without orbitopathy: a case–control study; Clinical Endocrinology
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel; Human Mutation
Tag SNPs detect association of the CYP1B1 gene with primary open angle glaucoma; Molecular Vision
Testosterone pathway genetic polymorphisms in relation to primary open-angle glaucoma: an analysis in two large datasets; Investigative Ophthalmology and Visual Science
TGC repeat expansion in the TCF4 gene increases the risk of Fuchs' endothelial corneal dystrophy in Australian cases; PLoS One
The association between vitamin D and multiple sclerosis risk: 1,25(OH)₂D₃ induces super-enhancers bound by VDR; Frontiers in Immunology
The association of hepatocyte growth factor (HGF) gene with primary angle closure glaucoma in the Nepalese population; Molecular Vision
The effect of insulin on response to intravitreal anti-VEGF injection in diabetic macular edema in type 2 diabetes mellitus; BMC Ophthalmology
The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort; Clinical Genetics
The genetics of central corneal thickness
The relative contribution of the X chromosome to ocular phenotypes; Ophthalmic Genetics
The role of toll-like receptor variants in acute anterior uveitis; Molecular Vision
The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes; British Journal of Ophthalmology
The utility of genomic testing in the ophthalmology clinic: a review; Clinical and Experimental Ophthalmology
Use of corneal biomechanical measures as endophenotypes for understanding the genetics of keratoconus; JAMA Ophthalmology
Utilising multi-large omics data to elucidate biological mechanisms within multiple sclerosis genetic susceptibility loci; Multiple Sclerosis Journal
Visual outcomes following vitrectomy for diabetic retinopathy amongst Indigenous and non-Indigenous Australians in South Australia and the Northern Territory; Clinical and Experimental Ophthalmology
Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma; PLoS ONE
WNT10A exonic variant increases the risk of keratoconus by decreasing corneal thickness; Human Molecular Genetics

Research Projects

A family-based approach to studying neurodegeneration in multiple sclerosis; University of Tasmania (UTAS)
Assay development to improve genetic testing in cataract patients with gap junction variants ; Royal Hobart Hospital Research Foundation (RHHRF)
DNA sequencer for genetic research; Ian Potter Foundation (IPF)
Finding glaucoma susceptibility variants by sequencing large families known to carry disease genes; National Health & Medical Research Council (NHMRC)
From Discovery to therapy in genetic eye diseases; National Health & Medical Research Council (NHMRC)
Gene Identification for Keratoconus - a Blinding Eye Disease; National Health & Medical Research Council (NHMRC)
Genetic indicators of treatment response to anti-VEGF intraocular injections for diabetic macular oedema; Ophthalmic Research Institute of Australia (ORIA)
Genetic Studies of Exfoliation Syndrome and Glaucoma in Ethiopia; Bright Focus Foundation (BFF)
High penetrance deleterious mutations in blinding glaucoma; National Health & Medical Research Council (NHMRC)
Identifying the Genetic Causes and Modifiers of Paediatric Cataract; National Health & Medical Research Council (NHMRC)
Investigating the role of short tandem repeat sequence variation in multiple sclerosis.; Multiple Sclerosis Australia (MSA)
Molecular, biochemical and genetic mechanisms of cataract in adults and children - improving diagnosis and outcomes; University of Tasmania (UTAS)
Tasmanian Genetic Research in Inherited Disease (TasGRID); University of Tasmania (UTAS)
Tasmanian Opthalmic Biobank; Tasmanian Community Fund (TasCF)
The modulation of multiple sclerosis (MS) relapse risk by genetic variations in the LRP2 gene; Royal Hobart Hospital Research Foundation (RHHRF)
Translation of glaucoma blindness genes to improve clinical practice; National Health & Medical Research Council (NHMRC)
Understanding genetic causes of blindness; National Health & Medical Research Council (NHMRC)
Understanding individual differences in response to treatment for diabetic eye disease; Royal Hobart Hospital Research Foundation (RHHRF)
Understanding the life course relationship of DNA methylation with obesity traits and its association with obesity-related diseases; University of Tasmania (UTAS)
Diabetes Tasmania PhD Scholarship

Research Candidate Supervision